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Medicine year 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

Which technique is best suited to monitor viral load (RNA) in blood

A

polymerase chain reaction

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2
Q

What is currently considered the first genetic investigation of choice for an inherited disorder associated with developmental delay and learning difficulties

A

chromosomal microarray analysis as this has greater resolution than a karyotype

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3
Q

What is the most likely explanation for a woman being affected by an x-linked mutation that they are a carrier of

A

skewed x-inactivation

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4
Q

What is the best technique to identify a balanced translocation mutation

A

karyotyping - a chromosomal microarray cannot detect balanced chromosome translocations

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5
Q

what is the significant advantage of using DNA technology to identify bacteria from a patient sample using its 16s gene sequence

A

this allows identification of microbes that cannot be grown under normal laboratory conditions

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6
Q

Analysis of transcripts within bone marrow cells from a haematology department focuses on what material

A

RNA

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7
Q

What is the best technique for testing multiple genes for single base variants

A

next generation sequencing

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8
Q

What is the sequence of events that occurs during transcription

A

RNA polymerase binding
DNA chain separation
Transcription initiation
Elongation
Termination

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9
Q

What can chromosomal microarray testing be used to identify

A

Unbalanced chromosomal alterations

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10
Q

When is conventional cytogenetic used

A

to investigate a suspected balanced chromosomal translocation

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11
Q

What is the first step in the central dogma of making a protein from a gene

A

transcription

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12
Q

What is the most likely explanation for why a single base mutation in an exon has no effect on protein sequence

A

codon usage shows redundancy

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13
Q

If someone possesses a gene mutation and a health condition but their son has the mutated gene without the health condition, what is the most likely explanation

A

The mutation has variable penetrate

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14
Q

Why does next generation sequencing of genes have an advantage over conventional sequencing

A

it allows sequencing of a much larger number of genes

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15
Q

Why is aCGH preferred over karyotyping as a first test for chromosomal analysis

A

it is high resolution

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16
Q

What characteristic of a cancer cell is central to it acquiring new characteristics

A

genomic instability

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17
Q

What is the best first lien investigation for detecting unbalanced chromosomal rearrangements

A

aCGH

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18
Q

What is penetrance

A

the likely hood of having a disease if you possess the gene mutation

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19
Q

What karyotype can be identified in someone diagnosed with Turner syndrome

A

45 X - this syndrome affected females only

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20
Q

How many hydrogen bonds from between cytosine and guanine

A

3

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21
Q

How many hydrogen bonds form between adenine and thymine

A

2

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22
Q

In what ways can DNA be damaged during replication (3)

A

DNA strand breaks
Chemical cross-linking
Mismatched bases

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23
Q

What is a polymorphism

A

A change in the genome that does not cause a disease in its own right, but can predispose an individual to a common disease

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24
Q

What pattern of inheritance do classic genetic disease cause

A

Mendelian inheritance

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25
Q

Describe multi factorial diseases

A

when multiple polymorphisms cause risk of diseases

26
Q

What is a missense mutation

A

a point mutation that causes a change to a single amino acids
Substitution

27
Q

What is a nonsense mutation

A

one resulting in a premature stop codon: the polypeptide will be shorter

28
Q

What are the possible types of insertion/deletion mutations (2)

A

In frame
Out of frame

29
Q

Which type of insertion/deletion mutation causes a frame shift

A

out of frame

30
Q

What is the result of promoter and splice site sequence changes (2)

A

terminates transcription or abnormal splicing

31
Q

Balanced chromosome rearrangement

A

when all chromosomes are present after rearrangement

32
Q

Unbalanced chromosome rearrangement

A

when some of the chromosomes/parts of chromosomes are missing after rearrangement
Causes major developmental problems/miscarriages

33
Q

Aneuploidy

A

whole extra or missing chromosome

34
Q

Which type of aneuploidy is better tolerated and why

A

X chromosome aneuploidy
Due to x inactivation

35
Q

What is the definition of translocation

A

rearrangement of chromosomes

36
Q

What is robertsonian translocation

A

when two acrocentric chromosomes are stuck end to end

37
Q

reciprocal translocation

A

two broken off chromosome pieces from non-homologous chromosomes are exchanged

38
Q

What chromosome is associated with Down’s syndrome

A

21

39
Q

Which chromosome is associated with miscarriage when mutated

A

14

40
Q

Which chromosome is associated with Edward’s syndrome

A

18

41
Q

What is the karyotype of Klinefelter syndrome

A

47 XXY

42
Q

What is FISH

A

a technique that uses fluorescent probes that bind only to parts of a nucleic acid sequence with a high degree of sequence complementarity
Can be used in genetic counselling

43
Q

Each human has how many pairs of chromosomes

A

23

44
Q

Which chromosome looks like a teddy bear

A

22

45
Q

What is the short arm of a chromosome represented by

A

P

46
Q

What is the long arm of a chromosome represented by

A

q

47
Q

What is a meta centric chromosome

A

a chromosome whose arms are both roughly the same length

48
Q

What is an acrocentric chromosome

A

a chromosome whose p arm is so short it is hard to observe

49
Q

What is a telomeric chromosome

A

a chromosome whose centromere is located at the terminal end of the chromosome

50
Q

What is monosomy

A

when there is a missing chromosome from one pair

51
Q

What is trisomy

A

When there is an extra chromosome in a pair

52
Q

Monosomy of the sex chromosome causes what

A

Turner’s syndrome

53
Q

Describe the inheritance of mitochondrial disease

A

the diseased mitochondria is passed from mother to child

54
Q

What is mosaicism

A

when cells within the same individual have different genetic makeup

55
Q

What is epigenetic variation

A

functional modifications to the genome

56
Q

What does methylation inhibit

A

DNA transcription

57
Q

What is imprinting

A

when variations occur in gene expression depending on which parent you inherit the gene from

58
Q

What is heteroplasmy

A

when different daughter cells contain different proportions of mutant mitochondria

59
Q

How many copies of the tumour suppressor gene are required to be mutated for cancer to occur

A

two copies

60
Q
A

Medicine year 1 (4 decks)

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